Variant report

Variant	rs4938863
Chromosome Location	chr11:57126708-57126709
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr11:57125763-57126765	A549	lung:	n/a	chr11:57126597-57126607
2	MAX	chr11:57125832-57126758	A549	lung:	n/a	n/a
3	SP1	chr11:57125935-57126732	A549	lung:	n/a	n/a
4	GATA3	chr11:57125881-57126785	A549	lung:	n/a	n/a
5	EP300	chr11:57125750-57126783	A549	lung:	n/a	chr11:57125804-57125812
6	JUN	chr11:57125307-57127276	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000266018	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10792086	1.00[CHD][hapmap];0.84[ASN][1000 genomes]
rs10792088	1.00[CHD][hapmap];0.84[ASN][1000 genomes]
rs10792089	0.84[ASN][1000 genomes]
rs10792091	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10792094	0.85[CEU][hapmap]
rs10896598	0.92[ASN][1000 genomes]
rs10896603	0.84[ASN][1000 genomes]
rs10896604	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[ASN][1000 genomes]
rs10896605	1.00[CHD][hapmap];0.84[ASN][1000 genomes]
rs10896608	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[ASN][1000 genomes]
rs11228995	0.92[ASN][1000 genomes]
rs11228997	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[ASN][1000 genomes]
rs11229003	0.92[ASN][1000 genomes]
rs11229011	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11602265	0.84[ASN][1000 genomes]
rs11602266	0.92[ASN][1000 genomes]
rs11603691	0.92[ASN][1000 genomes]
rs11606592	0.85[CEU][hapmap]
rs11607950	0.92[ASN][1000 genomes]
rs12365472	0.92[ASN][1000 genomes]
rs12576878	1.00[CHD][hapmap];0.84[ASN][1000 genomes]
rs1815769	0.93[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2230649	1.00[CHD][hapmap];0.84[ASN][1000 genomes]
rs34135716	0.84[ASN][1000 genomes]
rs4938864	0.93[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61888886	0.92[ASN][1000 genomes]
rs61888887	0.92[ASN][1000 genomes]
rs61888888	0.92[ASN][1000 genomes]
rs7106462	1.00[CHD][hapmap];0.84[ASN][1000 genomes]
rs7106575	0.85[CEU][hapmap]
rs7110052	1.00[CHD][hapmap]
rs7111339	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs7121288	0.85[CEU][hapmap]
rs7129491	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[ASN][1000 genomes]
rs7951793	1.00[CHD][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915640	chr11:56814841-57139786	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4938863	SLC43A3	cis	parietal	SCAN
rs4938863	OR9G4	cis	parietal	SCAN
rs4938863	OR10V1	cis	parietal	SCAN
rs4938863	TIMM10	cis	parietal	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57117600-57140000	Weak transcription	Right Atrium	heart
2	chr11:57120000-57126800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr11:57122000-57127200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:57122600-57127200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr11:57122600-57127400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr11:57123600-57127400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:57124000-57127000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:57124200-57127000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr11:57124200-57127600	Enhancers	NHEK	skin
10	chr11:57124800-57126800	Enhancers	Fetal Stomach	stomach
11	chr11:57124800-57127400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:57125000-57126800	Weak transcription	Placenta	Placenta
13	chr11:57125000-57128200	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr11:57125000-57128800	Enhancers	Fetal Muscle Leg	muscle
15	chr11:57125200-57126800	Enhancers	Fetal Heart	heart
16	chr11:57125200-57127000	Enhancers	K562	blood
17	chr11:57125200-57127800	Enhancers	HSMMtube	muscle
18	chr11:57125200-57128000	Enhancers	Hela-S3	cervix
19	chr11:57125200-57128200	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr11:57125400-57126800	Enhancers	Psoas Muscle	Psoas
21	chr11:57126000-57127800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr11:57126200-57126800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
23	chr11:57126200-57127800	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr11:57126200-57127800	Enhancers	Fetal Muscle Trunk	muscle
25	chr11:57126400-57127200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr11:57126400-57127400	Enhancers	H1 Cell Line	embryonic stem cell
27	chr11:57126400-57127600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:57126600-57127200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:57126600-57127200	Enhancers	A549	lung
30	chr11:57126600-57127800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:57126600-57127800	Enhancers	Pancreas	Pancrea
32	chr11:57126600-57128200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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